Fetal hydrops in Sardinia: implications for genetic counselling.
This paper describes the first case of Hb Bart's hydrops fetalis syndrome in the Sardinian population. Despite the high frequency of a-thalassemia, fetal hydrops is extraordinarily rare in the Sardinian population because a-thalassemia is more usually the result of the single a-thalassemia globin gene deletion and is very rarely produced by the deletion of two a-globin genes. The fetus, the product of a consanguineous marriage at risk for beta-thalassemia, was monitored by chorionic villi DNA analysis which detected the heterozygous state for the codon 39 nonsense mutation. Follow-up ultrasound examination showed fetal hydrops, which led us to carry out further investigation. Hemoglobin and a-globin gene analysis on cord blood obtained by cordocentesis revealed the homozygous state for the most common deletion ao-thalassemia in Mediterranean populations. Retrospective evaluation of the father's hematological features showed very low MCH-MCV for a beta-thalassemia carrier which may indicate co-inherited a-thalassemia. These findings indicate that careful evaluation of red cell indices of parents at risk for beta-thalassemia and adequate consideration of the consanguinity may point to co-inherited a-thalassemia and lead to the appropriate analysis.
Galanello
R
R
Instituto di Clinica e Biologia Eta' Evolutiva Università Studi Cagliari, Italy.
Sanna
M A
MA
Maccioni
L
L
Gasperini
D
D
Melis
M A
MA
Rosatelli
C
C
Monni
G
G
Cao
A
A
D015193:Chorionic Villi Sampling; D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005828:Genetics, Population; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D013789:Thalassemia / Q000235:genetics*
D015342:DNA Probes; D006455:Hemoglobins, Abnormal; D005914:Globins; C030448:hemoglobin Bart's